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Q92574

- TSC1_HUMAN

UniProt

Q92574 - TSC1_HUMAN

Protein

Hamartin

Gene

TSC1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 143 (01 Oct 2014)
      Sequence version 2 (01 Nov 1998)
      Previous versions | rss
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    Functioni

    In complex with TSC2, inhibits the nutrient-mediated or growth factor-stimulated phosphorylation of S6K1 and EIF4EBP1 by negatively regulating mTORC1 signaling. Seems not to be required for TSC2 GAP activity towards RHEB. Implicated as a tumor suppressor. Involved in microtubule-mediated protein transport, but this seems to be due to unregulated mTOR signaling.2 Publications

    GO - Molecular functioni

    1. chaperone binding Source: UniProtKB
    2. GTPase regulator activity Source: RefGenome
    3. protein binding Source: UniProtKB
    4. protein N-terminus binding Source: UniProtKB

    GO - Biological processi

    1. activation of Rho GTPase activity Source: UniProtKB
    2. cardiac muscle cell differentiation Source: Ensembl
    3. cell cycle arrest Source: Reactome
    4. cell-matrix adhesion Source: UniProtKB
    5. cell projection organization Source: Ensembl
    6. cerebral cortex development Source: Ensembl
    7. hippocampus development Source: Ensembl
    8. insulin receptor signaling pathway Source: Reactome
    9. kidney development Source: Ensembl
    10. myelination Source: Ensembl
    11. negative regulation of cell proliferation Source: UniProtKB
    12. negative regulation of cell size Source: Ensembl
    13. negative regulation of insulin receptor signaling pathway Source: RefGenome
    14. negative regulation of TOR signaling Source: UniProtKB
    15. negative regulation of translation Source: UniProtKB
    16. neural tube closure Source: Ensembl
    17. positive regulation of focal adhesion assembly Source: UniProtKB
    18. potassium ion transport Source: Ensembl
    19. protein heterooligomerization Source: Ensembl
    20. protein stabilization Source: UniProtKB
    21. regulation of cell cycle Source: RefGenome
    22. regulation of cell-matrix adhesion Source: UniProtKB
    23. regulation of phosphoprotein phosphatase activity Source: UniProtKB
    24. regulation of protein kinase activity Source: Ensembl
    25. regulation of stress fiber assembly Source: UniProtKB
    26. regulation of translation Source: UniProtKB
    27. response to insulin Source: UniProtKB
    28. rRNA export from nucleus Source: UniProtKB
    29. synapse organization Source: Ensembl

    Enzyme and pathway databases

    ReactomeiREACT_21393. Regulation of Rheb GTPase activity by AMPK.
    REACT_6743. Inhibition of TSC complex formation by PKB.
    SignaLinkiQ92574.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Hamartin
    Alternative name(s):
    Tuberous sclerosis 1 protein
    Gene namesi
    Name:TSC1
    Synonyms:KIAA0243, TSC
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 9

    Organism-specific databases

    HGNCiHGNC:12362. TSC1.

    Subcellular locationi

    Cytoplasm 1 Publication. Membrane 1 Publication; Peripheral membrane protein 1 Publication
    Note: At steady state found in association with membranes.

    GO - Cellular componenti

    1. cell cortex Source: UniProtKB
    2. cytoplasm Source: UniProtKB
    3. cytosol Source: UniProtKB
    4. growth cone Source: Ensembl
    5. intracellular membrane-bounded organelle Source: Ensembl
    6. lamellipodium Source: UniProtKB
    7. membrane Source: UniProtKB
    8. protein complex Source: UniProtKB
    9. TSC1-TSC2 complex Source: UniProtKB

    Keywords - Cellular componenti

    Cytoplasm, Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Tuberous sclerosis 1 (TSC1) [MIM:191100]: An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.7 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti51 – 511E → D in TSC1; unknown pathological significance.
    VAR_009397
    Natural varianti61 – 611L → R in TSC1; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_070636
    Natural varianti72 – 721L → P in TSC1. 1 Publication
    VAR_054387
    Natural varianti117 – 1171L → P in TSC1; reduced expression; altered subcellular localization; reduced interaction with TSC2; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_070637
    Natural varianti126 – 1261V → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070638
    Natural varianti128 – 1281Missing in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_070639
    Natural varianti132 – 1321G → D in TSC1; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_070640
    Natural varianti133 – 1331V → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070641
    Natural varianti180 – 1801L → P in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_070643
    Natural varianti191 – 1911L → H in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_009399
    Natural varianti198 – 1992NF → I in TSC1; reduced expression; altered subcellular localization; reduced interaction with TSC2; reduced inhibition of TORC1 signaling.
    VAR_009400
    Natural varianti224 – 2241M → R in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_009401
    Natural varianti246 – 2461R → K in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070645
    Natural varianti305 – 3051G → R in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070646
    Natural varianti305 – 3051G → W in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070647
    Natural varianti336 – 3361R → Q in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070648
    Natural varianti362 – 3621P → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070649
    Natural varianti411 – 4111L → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070650
    Natural varianti417 – 4171T → I in TSC1; unknown pathological significance; does not affect interaction with TSC2. 3 Publications
    Corresponds to variant rs77464996 [ dbSNP | Ensembl ].
    VAR_009403
    Natural varianti448 – 4481P → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070651
    Natural varianti500 – 5001R → Q in TSC1. 1 Publication
    VAR_054391
    Natural varianti523 – 5231A → P in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070653
    Natural varianti567 – 5671A → V in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070654
    Natural varianti586 – 5894CKIP → S in TSC1.
    VAR_009405
    Natural varianti654 – 6541Q → E in TSC1. 1 Publication
    Corresponds to variant rs75820036 [ dbSNP | Ensembl ].
    VAR_009407
    Natural varianti693 – 6931D → H in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070655
    Natural varianti698 – 6981L → R in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070656
    Natural varianti701 – 7011Q → H in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070657
    Natural varianti726 – 7261A → E in TSC1. 1 Publication
    VAR_009408
    Natural varianti762 – 7621N → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070658
    Natural varianti811 – 8111R → G in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070659
    Natural varianti883 – 8831A → T in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070660
    Natural varianti899 – 8991T → S in TSC1. 1 Publication
    VAR_009412
    Natural varianti978 – 9781L → V in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070661
    Natural varianti1043 – 10431Missing in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070662
    Natural varianti1146 – 11461D → Y in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070664
    Focal cortical dysplasia of Taylor balloon cell type (FCDBC) [MIM:607341]: Subtype of cortical dysplasias linked to chronic intractable epilepsy. Cortical dysplasias display a broad spectrum of structural changes, which appear to result from changes in proliferation, migration, differentiation, and apoptosis of neuronal precursors and neurons during cortical development.1 Publication
    Note: The disease may be caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti732 – 7321H → Y in FCDBC; unknown pathological significance. 4 Publications
    Corresponds to variant rs118203657 [ dbSNP | Ensembl ].
    VAR_009409

    Keywords - Diseasei

    Disease mutation, Epilepsy, Tumor suppressor

    Organism-specific databases

    MIMi191100. phenotype.
    607341. phenotype.
    Orphaneti269008. Isolated focal cortical dysplasia type IIb.
    538. Lymphangioleiomyomatosis.
    805. Tuberous sclerosis.
    PharmGKBiPA37034.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 11641164HamartinPRO_0000065651Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei505 – 5051Phosphoserine3 Publications
    Modified residuei511 – 5111Phosphoserine1 Publication
    Modified residuei598 – 5981Phosphoserine1 Publication

    Post-translational modificationi

    Phosphorylation at Ser-505 does not affect interaction with TSC2.3 Publications

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ92574.
    PaxDbiQ92574.
    PRIDEiQ92574.

    PTM databases

    PhosphoSiteiQ92574.

    Expressioni

    Tissue specificityi

    Highly expressed in skeletal muscle, followed by heart, brain, placenta, pancreas, lung, liver and kidney. Also expressed in embryonic kidney cells.

    Gene expression databases

    ArrayExpressiQ92574.
    BgeeiQ92574.
    CleanExiHS_TSC1.
    GenevestigatoriQ92574.

    Organism-specific databases

    HPAiCAB011568.
    CAB012481.

    Interactioni

    Subunit structurei

    Interacts with TSC2, leading to stabilize TSC2. In the absence of TSC2, TSC1 self-aggregates. Interacts with DOCK7. Interacts with FBXW5 and TBC1D7.7 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    IKBKBO149203EBI-1047085,EBI-81266
    MAPK14Q165392EBI-1047085,EBI-73946
    NGFRAP1Q009945EBI-1047085,EBI-741753
    TSC2P4981510EBI-1047085,EBI-396587

    Protein-protein interaction databases

    BioGridi113099. 34 interactions.
    IntActiQ92574. 34 interactions.
    MINTiMINT-1534928.
    STRINGi9606.ENSP00000298552.

    Structurei

    3D structure databases

    ProteinModelPortaliQ92574.
    SMRiQ92574. Positions 85-263.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili721 – 997277Sequence AnalysisAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi1034 – 10374Poly-Gly
    Compositional biasi1038 – 10436Poly-Ser

    Domaini

    The C-terminal putative coiled-coil domain is necessary for interaction with TSC2.

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG68098.
    HOGENOMiHOG000232119.
    HOVERGENiHBG012559.
    InParanoidiQ92574.
    KOiK07206.
    OMAiNAAMKDQ.
    OrthoDBiEOG7NKKJH.
    PhylomeDBiQ92574.
    TreeFamiTF325466.

    Family and domain databases

    InterProiIPR007483. Hamartin.
    [Graphical view]
    PANTHERiPTHR15154. PTHR15154. 1 hit.
    PfamiPF04388. Hamartin. 1 hit.
    [Graphical view]

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q92574-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAQQANVGEL LAMLDSPMLG VRDDVTAVFK ENLNSDRGPM LVNTLVDYYL     50
    ETSSQPALHI LTTLQEPHDK HLLDRINEYV GKAATRLSIL SLLGHVIRLQ 100
    PSWKHKLSQA PLLPSLLKCL KMDTDVVVLT TGVLVLITML PMIPQSGKQH 150
    LLDFFDIFGR LSSWCLKKPG HVAEVYLVHL HASVYALFHR LYGMYPCNFV 200
    SFLRSHYSMK ENLETFEEVV KPMMEHVRIH PELVTGSKDH ELDPRRWKRL 250
    ETHDVVIECA KISLDPTEAS YEDGYSVSHQ ISARFPHRSA DVTTSPYADT 300
    QNSYGCATST PYSTSRLMLL NMPGQLPQTL SSPSTRLITE PPQATLWSPS 350
    MVCGMTTPPT SPGNVPPDLS HPYSKVFGTT AGGKGTPLGT PATSPPPAPL 400
    CHSDDYVHIS LPQATVTPPR KEERMDSARP CLHRQHHLLN DRGSEEPPGS 450
    KGSVTLSDLP GFLGDLASEE DSIEKDKEEA AISRELSEIT TAEAEPVVPR 500
    GGFDSPFYRD SLPGSQRKTH SAASSSQGAS VNPEPLHSSL DKLGPDTPKQ 550
    AFTPIDLPCG SADESPAGDR ECQTSLETSI FTPSPCKIPP PTRVGFGSGQ 600
    PPPYDHLFEV ALPKTAHHFV IRKTEELLKK AKGNTEEDGV PSTSPMEVLD 650
    RLIQQGADAH SKELNKLPLP SKSVDWTHFG GSPPSDEIRT LRDQLLLLHN 700
    QLLYERFKRQ QHALRNRRLL RKVIKAAALE EHNAAMKDQL KLQEKDIQMW 750
    KVSLQKEQAR YNQLQEQRDT MVTKLHSQIR QLQHDREEFY NQSQELQTKL 800
    EDCRNMIAEL RIELKKANNK VCHTELLLSQ VSQKLSNSES VQQQMEFLNR 850
    QLLVLGEVNE LYLEQLQNKH SDTTKEVEMM KAAYRKELEK NRSHVLQQTQ 900
    RLDTSQKRIL ELESHLAKKD HLLLEQKKYL EDVKLQARGQ LQAAESRYEA 950
    QKRITQVFEL EILDLYGRLE KDGLLKKLEE EKAEAAEAAE ERLDCCNDGC 1000
    SDSMVGHNEE ASGHNGETKT PRPSSARGSS GSRGGGGSSS SSSELSTPEK 1050
    PPHQRAGPFS SRWETTMGEA SASIPTTVGS LPSSKSFLGM KARELFRNKS 1100
    ESQCDEDGMT SSLSESLKTE LGKDLGVEAK IPLNLDGPHP SPPTPDSVGQ 1150
    LHIMDYNETH HEHS 1164
    Length:1,164
    Mass (Da):129,767
    Last modified:November 1, 1998 - v2
    Checksum:iEF15509385C7AACC
    GO
    Isoform 2 (identifier: Q92574-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         70-120: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:1,113
    Mass (Da):124,015
    Checksum:i6EA012443870A73C
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti51 – 511E → D in TSC1; unknown pathological significance.
    VAR_009397
    Natural varianti61 – 611L → R in TSC1; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_070636
    Natural varianti68 – 681H → R in a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2. 1 Publication
    VAR_054386
    Natural varianti72 – 721L → P in TSC1. 1 Publication
    VAR_054387
    Natural varianti117 – 1171L → P in TSC1; reduced expression; altered subcellular localization; reduced interaction with TSC2; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_070637
    Natural varianti126 – 1261V → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070638
    Natural varianti128 – 1281Missing in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_070639
    Natural varianti132 – 1321G → D in TSC1; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_070640
    Natural varianti133 – 1331V → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070641
    Natural varianti158 – 1581F → C in a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2. 1 Publication
    VAR_054388
    Natural varianti158 – 1581F → S in a patient suspected of having tuberous sclerosis; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_070642
    Natural varianti180 – 1801L → P in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_070643
    Natural varianti190 – 1901R → S.
    VAR_009398
    Natural varianti191 – 1911L → H in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_009399
    Natural varianti198 – 1992NF → I in TSC1; reduced expression; altered subcellular localization; reduced interaction with TSC2; reduced inhibition of TORC1 signaling.
    VAR_009400
    Natural varianti204 – 2041R → P in a patient suspected of having tuberous sclerosis; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_070644
    Natural varianti206 – 2061H → D in a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2. 1 Publication
    VAR_054389
    Natural varianti216 – 2161F → L in a bladder tumor; diffuse punctate cytoplasmic distribution in aminoacid-starved conditions; does not affect interaction with TSC2. 1 Publication
    VAR_054390
    Natural varianti224 – 2241M → R in TSC1; reduced expression; reduced inhibition of TORC1 signaling. 1 Publication
    VAR_009401
    Natural varianti246 – 2461R → K in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070645
    Natural varianti305 – 3051G → R in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070646
    Natural varianti305 – 3051G → W in TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070647
    Natural varianti322 – 3221M → T.5 Publications
    Corresponds to variant rs1073123 [ dbSNP | Ensembl ].
    VAR_009402
    Natural varianti336 – 3361R → Q in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070648
    Natural varianti362 – 3621P → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070649
    Natural varianti411 – 4111L → I in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070650
    Natural varianti417 – 4171T → I in TSC1; unknown pathological significance; does not affect interaction with TSC2. 3 Publications
    Corresponds to variant rs77464996 [ dbSNP | Ensembl ].
    VAR_009403
    Natural varianti448 – 4481P → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070651
    Natural varianti500 – 5001R → Q in TSC1. 1 Publication
    VAR_054391
    Natural varianti509 – 5091R → Q Rare polymorphism; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070652
    Natural varianti523 – 5231A → P in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070653
    Natural varianti567 – 5671A → V in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070654
    Natural varianti577 – 5771E → D.1 Publication
    VAR_009404
    Natural varianti586 – 5894CKIP → S in TSC1.
    VAR_009405
    Natural varianti587 – 5871K → R.2 Publications
    Corresponds to variant rs118203576 [ dbSNP | Ensembl ].
    VAR_009406
    Natural varianti654 – 6541Q → E in TSC1. 1 Publication
    Corresponds to variant rs75820036 [ dbSNP | Ensembl ].
    VAR_009407
    Natural varianti693 – 6931D → H in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070655
    Natural varianti698 – 6981L → R in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070656
    Natural varianti701 – 7011Q → H in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070657
    Natural varianti726 – 7261A → E in TSC1. 1 Publication
    VAR_009408
    Natural varianti732 – 7321H → Y in FCDBC; unknown pathological significance. 4 Publications
    Corresponds to variant rs118203657 [ dbSNP | Ensembl ].
    VAR_009409
    Natural varianti762 – 7621N → S in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070658
    Natural varianti809 – 8091E → Q.1 Publication
    VAR_009410
    Natural varianti811 – 8111R → G in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070659
    Natural varianti829 – 8291S → R.1 Publication
    VAR_009411
    Natural varianti883 – 8831A → T in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070660
    Natural varianti899 – 8991T → S in TSC1. 1 Publication
    VAR_009412
    Natural varianti978 – 9781L → V in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070661
    Natural varianti1035 – 10351G → S Rare polymorphism; no effect on expression; no effect on inhibition of TORC1 signaling. 3 Publications
    Corresponds to variant rs118203742 [ dbSNP | Ensembl ].
    VAR_009413
    Natural varianti1043 – 10431Missing in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070662
    Natural varianti1097 – 10971R → H Rare polymorphism; no effect on expression; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070663
    Natural varianti1108 – 11081G → S.1 Publication
    VAR_009414
    Natural varianti1146 – 11461D → Y in TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling. 1 Publication
    VAR_070664

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei70 – 12051Missing in isoform 2. 1 PublicationVSP_042890Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF013168 mRNA. Translation: AAC51674.1.
    AK303030 mRNA. Translation: BAH13883.1.
    AL445645 Genomic DNA. Translation: CAH72112.1.
    CH471090 Genomic DNA. Translation: EAW88021.1.
    AC002096 Genomic DNA. No translation available.
    D87683 mRNA. Translation: BAA13436.1.
    AF234185 Genomic DNA. Translation: AAF61948.1.
    CCDSiCCDS55350.1. [Q92574-2]
    CCDS6956.1. [Q92574-1]
    PIRiT03814.
    RefSeqiNP_000359.1. NM_000368.4. [Q92574-1]
    NP_001155898.1. NM_001162426.1.
    NP_001155899.1. NM_001162427.1. [Q92574-2]
    XP_005272268.1. XM_005272211.1. [Q92574-1]
    XP_006717334.1. XM_006717271.1. [Q92574-1]
    UniGeneiHs.370854.

    Genome annotation databases

    EnsembliENST00000298552; ENSP00000298552; ENSG00000165699. [Q92574-1]
    ENST00000440111; ENSP00000394524; ENSG00000165699. [Q92574-1]
    ENST00000545250; ENSP00000444017; ENSG00000165699. [Q92574-2]
    GeneIDi7248.
    KEGGihsa:7248.
    UCSCiuc004cca.2. human. [Q92574-1]
    uc011mcq.1. human. [Q92574-2]

    Polymorphism databases

    DMDMi9297077.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology
    Tuberous sclerosis database Tuberous sclerosis 1 (TSC1)

    Leiden Open Variation Database (LOVD)

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF013168 mRNA. Translation: AAC51674.1 .
    AK303030 mRNA. Translation: BAH13883.1 .
    AL445645 Genomic DNA. Translation: CAH72112.1 .
    CH471090 Genomic DNA. Translation: EAW88021.1 .
    AC002096 Genomic DNA. No translation available.
    D87683 mRNA. Translation: BAA13436.1 .
    AF234185 Genomic DNA. Translation: AAF61948.1 .
    CCDSi CCDS55350.1. [Q92574-2 ]
    CCDS6956.1. [Q92574-1 ]
    PIRi T03814.
    RefSeqi NP_000359.1. NM_000368.4. [Q92574-1 ]
    NP_001155898.1. NM_001162426.1.
    NP_001155899.1. NM_001162427.1. [Q92574-2 ]
    XP_005272268.1. XM_005272211.1. [Q92574-1 ]
    XP_006717334.1. XM_006717271.1. [Q92574-1 ]
    UniGenei Hs.370854.

    3D structure databases

    ProteinModelPortali Q92574.
    SMRi Q92574. Positions 85-263.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 113099. 34 interactions.
    IntActi Q92574. 34 interactions.
    MINTi MINT-1534928.
    STRINGi 9606.ENSP00000298552.

    PTM databases

    PhosphoSitei Q92574.

    Polymorphism databases

    DMDMi 9297077.

    Proteomic databases

    MaxQBi Q92574.
    PaxDbi Q92574.
    PRIDEi Q92574.

    Protocols and materials databases

    DNASUi 7248.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000298552 ; ENSP00000298552 ; ENSG00000165699 . [Q92574-1 ]
    ENST00000440111 ; ENSP00000394524 ; ENSG00000165699 . [Q92574-1 ]
    ENST00000545250 ; ENSP00000444017 ; ENSG00000165699 . [Q92574-2 ]
    GeneIDi 7248.
    KEGGi hsa:7248.
    UCSCi uc004cca.2. human. [Q92574-1 ]
    uc011mcq.1. human. [Q92574-2 ]

    Organism-specific databases

    CTDi 7248.
    GeneCardsi GC09M135766.
    GeneReviewsi TSC1.
    HGNCi HGNC:12362. TSC1.
    HPAi CAB011568.
    CAB012481.
    MIMi 191100. phenotype.
    605284. gene.
    607341. phenotype.
    neXtProti NX_Q92574.
    Orphaneti 269008. Isolated focal cortical dysplasia type IIb.
    538. Lymphangioleiomyomatosis.
    805. Tuberous sclerosis.
    PharmGKBi PA37034.
    HUGEi Search...
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG68098.
    HOGENOMi HOG000232119.
    HOVERGENi HBG012559.
    InParanoidi Q92574.
    KOi K07206.
    OMAi NAAMKDQ.
    OrthoDBi EOG7NKKJH.
    PhylomeDBi Q92574.
    TreeFami TF325466.

    Enzyme and pathway databases

    Reactomei REACT_21393. Regulation of Rheb GTPase activity by AMPK.
    REACT_6743. Inhibition of TSC complex formation by PKB.
    SignaLinki Q92574.

    Miscellaneous databases

    ChiTaRSi TSC1. human.
    GeneWikii TSC1.
    GenomeRNAii 7248.
    NextBioi 28341.
    PROi Q92574.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q92574.
    Bgeei Q92574.
    CleanExi HS_TSC1.
    Genevestigatori Q92574.

    Family and domain databases

    InterProi IPR007483. Hamartin.
    [Graphical view ]
    PANTHERi PTHR15154. PTHR15154. 1 hit.
    Pfami PF04388. Hamartin. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANT ARG-587.
    2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
      Tissue: Testis.
    3. "DNA sequence and analysis of human chromosome 9."
      Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
      , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
      Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "Prediction of the coding sequences of unidentified human genes. VI. The coding sequences of 80 new genes (KIAA0201-KIAA0280) deduced by analysis of cDNA clones from cell line KG-1 and brain."
      Nagase T., Seki N., Ishikawa K., Ohira M., Kawarabayasi Y., Ohara O., Tanaka A., Kotani H., Miyajima N., Nomura N.
      DNA Res. 3:321-329(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 466-1164 (ISOFORM 1/2).
      Tissue: Bone marrow.
    6. "A silent mutation 1947 T-->C in exon 15 of TSC1 in Chinese."
      Fang L., Wang N., Murong S.X., Wu Z.Y., Lin M.T.
      Submitted (FEB-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 568-586.
    7. "Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles."
      Plank T.L., Yeung R.S., Henske E.P.
      Cancer Res. 58:4766-4770(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: SUBCELLULAR LOCATION, INTERACTION WITH TSC2.
    8. Cited for: INTERACTION WITH TSC2.
    9. "Characterization of the cytosolic tuberin-hamartin complex. Tuberin is a cytosolic chaperone for hamartin."
      Nellist M., van Slegtenhorst M.A., Goedbloed M., van den Ouweland A.M.W., Halley D.J.J., van der Sluijs P.
      J. Biol. Chem. 274:35647-35652(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TSC2.
    10. "Tuberous sclerosis complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling."
      Tee A.R., Fingar D.C., Manning B.D., Kwiatkowski D.J., Cantley L.C., Blenis J.
      Proc. Natl. Acad. Sci. U.S.A. 99:13571-13576(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    11. "Biochemical and functional characterizations of small GTPase Rheb and TSC2 GAP activity."
      Li Y., Inoki K., Guan K.-L.
      Mol. Cell. Biol. 24:7965-7975(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: FUNCTION.
    12. Cited for: PHOSPHORYLATION AT SER-505, IDENTIFICATION BY MASS SPECTROMETRY, INTERACTION WITH DOCK7 AND TSC2.
    13. "TSC1 stabilizes TSC2 by inhibiting the interaction between TSC2 and the HERC1 ubiquitin ligase."
      Chong-Kopera H., Inoki K., Li Y., Zhu T., Garcia-Gonzalo F.R., Rosa J.L., Guan K.-L.
      J. Biol. Chem. 281:8313-8316(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TSC2.
    14. "Identification of TBC7 having TBC domain as a novel binding protein to TSC1-TSC2 complex."
      Nakashima A., Yoshino K., Miyamoto T., Eguchi S., Oshiro N., Kikkawa U., Yonezawa K.
      Biochem. Biophys. Res. Commun. 361:218-223(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH TBC1D7.
    15. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Embryonic kidney.
    16. "WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase."
      Hu J., Zacharek S., He Y.J., Lee H., Shumway S., Duronio R.J., Xiong Y.
      Genes Dev. 22:866-871(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH FBXW5.
    17. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Platelet.
    18. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-505; SER-511 AND SER-598, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    19. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."
      Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.
      Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    20. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
      Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
      Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-505, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Leukemic T-cell.
    21. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    22. "Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis."
      Jones A.C., Daniells C.E., Snell R.G., Tachataki M., Idziaszczyk S.A., Krawczak M., Sampson J.R., Cheadle J.P.
      Hum. Mol. Genet. 6:2155-2161(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TSC1 GLU-726, VARIANTS THR-322; TYR-732 AND SER-1035.
      Tissue: Peripheral blood.
    23. "Comprehensive mutational analysis of the TSC1 gene: observations on frequency of mutation, associated features, and nonpenetrance."
      Kwiatkowska J., Jozwiak S., Hall F., Henske E.P., Haines J.L., McNamara P., Braiser J., Wigowska-Sowinska J., Kasprzyk-Obara J., Short M.P., Kwiatkowski D.J.
      Ann. Hum. Genet. 62:277-285(1998) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS THR-322; ARG-587; TYR-732; SER-1035 AND SER-1108.
      Tissue: Blood.
    24. "Protein truncation test for screening hamartin gene mutations and report of new disease-causing mutations."
      Benit P., Kara-Mostefa A., Hadj-Rabia S., Munnich A., Bonnefont J.-P.
      Hum. Mutat. 14:428-432(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TSC1 PRO-72.
    25. "Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis."
      Niida Y., Lawrence-Smith N., Banwell A., Hammer E., Lewis J., Beauchamp R.L., Sims K., Ramesh V., Ozelius L.
      Hum. Mutat. 14:412-422(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS THR-322; TYR-732 AND GLN-809.
      Tissue: Blood and Lymphoblast.
    26. "Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex."
      Zhang H., Nanba E., Yamamoto T., Ninomiya H., Ohno K., Mizuguchi M., Takeshita K.
      J. Hum. Genet. 44:391-396(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS TSC1 ILE-417; GLU-654 AND SER-899, VARIANT THR-322.
      Tissue: Blood.
    27. "Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation."
      Van Slegtenhorst M.A., Verhoef S., Tempelaars A., Bakker L., Wang Q., Wessels M., Bakker R., Nellist M., Lindhout D., Halley D.J.J., van den Ouweland A.M.W.
      J. Med. Genet. 36:285-289(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS TSC1, VARIANTS.
      Tissue: Peripheral blood.
    28. "Analysis of all exons of TSC1 and TSC2 genes for germline mutations in Japanese patients with tuberous sclerosis: report of 10 mutations."
      Yamashita Y., Ono J., Okada S., Wataya-Kaneda M., Yoshikawa K., Nishizawa M., Hirayama Y., Kobayashi E., Seyama K., Hino O.
      Am. J. Med. Genet. 90:123-126(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS THR-322; ILE-417; ASP-577 AND ARG-829.
      Tissue: Peripheral blood leukocyte.
    29. "Tuberous sclerosis type 1: three novel mutations detected in exon 15 by a combination of HDA and TGGE."
      Hass J., Mayer K., Rott H.-D.
      Hum. Mutat. 16:88-88(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT TSC1 GLN-500.
    30. "Focal cortical dysplasia of Taylor's balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis."
      Becker A.J., Urbach H., Scheffler B., Baden T., Normann S., Lahl R., Pannek H.W., Tuxhorn I., Elger C.E., Schramm J., Wiestler O.D., Bluemcke I.
      Ann. Neurol. 52:29-37(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT FCDBC TYR-732.
    31. "Bladder tumour-derived somatic TSC1 missense mutations cause loss of function via distinct mechanisms."
      Pymar L.S., Platt F.M., Askham J.M., Morrison E.E., Knowles M.A.
      Hum. Mol. Genet. 17:2006-2017(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARG-68; CYS-158; ASP-206; LEU-216 AND ILE-417, CHARACTERIZATION OF VARIANTS ARG-68; CYS-158; ASP-206; LEU-216 AND ILE-417.
    32. Cited for: VARIANTS TSC1 PRO-117; VAL-128 DEL; PRO-180; HIS-191; 198-ASN-PHE-199 DELINS ILE; ARG-224; LYS-246; ARG-305 AND TRP-305, VARIANTS GLN-509; SER-1035 AND HIS-1097, CHARACTERIZATION OF VARIANTS TSC1 PRO-117; VAL-128 DEL; PRO-180; HIS-191; 198-ASN-PHE-199 DELINS ILE; ARG-224; LYS-246; ARG-305 AND TRP-305, CHARACTERIZATION OF VARIANTS GLN-509; SER-1035 AND HIS-1097.
    33. Cited for: VARIANTS TSC1 ARG-61; ILE-126; ASP-132; ILE-133; GLN-336; SER-362; ILE-411; SER-448; PRO-523; VAL-567; HIS-693; ARG-698; HIS-701; SER-762; GLY-811; THR-883; VAL-978; SER-1043 DEL AND TYR-1146, VARIANTS SER-158 AND PRO-204, CHARACTERIZATION OF VARIANTS TSC1 ARG-61; PRO-117; ILE-126; ASP-132; ILE-133; GLN-336; SER-362; ILE-411; SER-448; PRO-523; VAL-567; HIS-693; ARG-698; HIS-701; SER-762; GLY-811; THR-883; VAL-978; SER-1043 DEL AND TYR-1146, CHARACTERIZATION OF VARIANTS SER-158 AND PRO-204.

    Entry informationi

    Entry nameiTSC1_HUMAN
    AccessioniPrimary (citable) accession number: Q92574
    Secondary accession number(s): B7Z897, Q5VVN5
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: December 1, 2000
    Last sequence update: November 1, 1998
    Last modified: October 1, 2014
    This is version 143 of the entry and version 2 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 9
      Human chromosome 9: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

    External Data

    Dasty 3